Canonical Allele Identifier: CA347276230

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73557243A>T , CM000664.2:g.73557243A>T	GRCh38
NC_000002.11:g.73784370A>T , CM000664.1:g.73784370A>T	GRCh37
NC_000002.10:g.73637878A>T	NCBI36
NG_011690.1:g.176491A>T , LRG_741:g.176491A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10102A>T MANE Select	NP_001365383.1:p.Thr3368Ser
ENST00000613296.6:c.10102A>T MANE Select	ENSP00000482968.1:p.Thr3368Ser
NM_015120.4:c.10105A>T , LRG_741t1:c.10105A>T	NP_055935.4:p.Thr3369Ser
ENST00000423048.5:c.3593A>T	ENSP00000399833.1:n.3593A>T
ENST00000476650.2:n.222A>T
ENST00000484298.5:c.9976A>T	ENSP00000478155.1:p.Thr3326Ser
ENST00000613296.4:c.10102A>T	ENSP00000482968.1:p.Thr3368Ser
ENST00000614410.4:c.10102A>T	ENSP00000479094.1:p.Thr3368Ser
ENST00000620466.4:n.3905A>T
ENST00000651057.1:c.256A>T	ENSP00000498504.1:p.Thr86Ser
ENST00000651434.1:c.1458A>T
ENST00000652487.1:c.1199A>T
ENST00000682565.1:c.9721A>T	ENSP00000507671.1:p.Thr3241Ser
ENST00000682801.1:c.9721A>T	ENSP00000507862.1:p.Thr3241Ser
ENST00000682859.1:c.9721A>T	ENSP00000508222.1:p.Thr3241Ser
ENST00000683791.1:c.3089+6806A>T
ENST00000684460.1:c.7002A>T
ENST00000684548.1:c.9721A>T	ENSP00000507421.1:p.Thr3241Ser
ENST00000684590.1:c.4168A>T	ENSP00000507376.1:p.Thr1390Ser
ENST00000684656.1:c.7047A>T